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Disorders of fatty acid oxidation
Disorders of fatty acid oxidation
by Alike Medical Team ∙ Updated on June 13, 2023
Additional names
This group contains additional names: - Carnitine palmitoyl transferase deficiency
General
Carnitine palmitoyl transferase deficiency (CPT1, CPT2) are rare disorders in which the body is missing certain enzymes that participate in oxidation of certain fats. The severity of the condition varies, and the symptoms usually appear during early childhood. These people tend to have hypoketotic hypoglycemia, which means their blood has low levels of sugar and ketones, the products in fat breakdown. The hypoglycemia is triggered when fasting or during illness or infections. The disorders occur due to mutations in the CPT 1 and 2 genes, which are inherited in autosomal recessive patterns.
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Signs & symptoms
Symptoms may include confusion, weakness, enlarged liver, liver failure, seizures, coma and sudden death.
Diagnosis
Diagnosis is based upon findings from medical history and physical examination. Further evaluation may include blood tests, urine tests, exercise tests, and genetic tests.
Treatment
The disorders have no cure, and treatment focuses on changes in diet. The diet recommended is rich with carbohydrates and contains low amounts of fats and protein. Also, eating often is important to prevent hypoglycemia.
Note
☝ We provide information on prescription and over-the-counter medicines, diagnosis, procedures and lab tests. This material is provided for educational purposes only and is not medical advice, diagnosis or treatment.
National Institutes of Health ∙ World Health Organization ∙ MedlinePluse ∙ Centers for Disease Control and Prevention
☝ All information has been reviewed by certified physicians from Alike
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